کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6103845 | 1211132 | 2013 | 4 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Case ReportPrimary hepatocellular neoplasms in a MODY3 family with a novel HNF1A germline mutation Case ReportPrimary hepatocellular neoplasms in a MODY3 family with a novel HNF1A germline mutation](/preview/png/6103845.png)
Maturity onset diabetes of the young type 3 (MODY3) and hepatocellular adenomas (HCAs) are associated with mutations in the HNF1A gene. HNF1A codes for the transcription factor HNF1α, which interacts with DNA as a homodimer or a heterodimer with HNF1β, to regulate multiple cellular functions including glucidic metabolism, lipidic transport, and detoxication.We report three members of one family with a novel germline in-frame deletion of HNF1A exons 2-3 identified initially using array CGH and direct sequence analysis. All three family members have MODY3 in association with primary liver cell tumours (HCA, liver adenomatosis (LA), and hepatocellular carcinoma (HCC)). Additionally, a high rate of infant mortality was observed in the family.The described family demonstrates a novel HNF1A mutation associated with both benign and malignant primary liver cell tumours and MODY3.
Journal: Journal of Hepatology - Volume 59, Issue 4, October 2013, Pages 904-907